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Stepwise ABC system for classification of any type of genetic variant
The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based with five classes: benign, likely benign, variant of unknown significance (VUS), likely pathogenic, and pathogenic. Here, we present a variant...
Autores principales: | Houge, Gunnar, Laner, Andreas, Cirak, Sebahattin, de Leeuw, Nicole, Scheffer, Hans, den Dunnen, Johan T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821602/ https://www.ncbi.nlm.nih.gov/pubmed/33981013 http://dx.doi.org/10.1038/s41431-021-00903-z |
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